Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

collagen and calcium binding EGF domains 1
9430093N24Rik,  4933426F18Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ccbe1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ccbe1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ccbe1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Lymphatic Malformation 9
Predominantly lower limb lymphedema, Tortuous lymphatic vessels OMIM:619319
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vesse... ORPHA:568051
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Pulmonary lymphangiomyomatosis OMIM:606690
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153300
Lymphatic Malformation 5
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Facial edema OMIM:153200
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... OMIM:615234
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Oligohydramnios, Hepatomegaly, Anemia, Splenomegaly, Abnormal he... ORPHA:163596
Edema OMIM:614103
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Elevated hepatic transaminase, Abnormal macrophage morphology, Increased circulating antibody lev... ORPHA:507
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate produ... OMIM:613673
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Pedal edema, Edema, Stillbirth OMIM:152800
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly, Pallor OMIM:613839
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy,... ORPHA:824
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Edema, Anemia, Splenomeg... OMIM:603552
Kaposiform Lymphangiomatosis
Pancreatic cysts, Pericardial effusion, Abnormal lymphatic vessel morphology, Abnormal spleen mor... ORPHA:464329
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pulmonary lymphangiectasia OMIM:616006
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor OMIM:611804
Hydrops fetalis, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Sp... ORPHA:846
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Lymphedema, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, Abnormal n... ORPHA:3226
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Decreased circulating antibody level,... ORPHA:331206
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Pallor, Lymphadenopathy ORPHA:56425
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Hydrops fetalis, Reticulocytosis, Abnormal erythrocyte morphology, Cong... ORPHA:766
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Premature skin wrinkling, Thrombocytopenia, Edema, Anemia, Coarctatio... ORPHA:101028
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Pancytopenia, Peripheral arterial stenosis, Leukopenia, Anemia OMIM:167850
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Abnormal lymphatic vessel morphology... ORPHA:2330
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Increased nuchal translucency, Ascites, Anemia ORPHA:295
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Preeclampsia/Eclampsia 1
Thrombocytopenia, Edema, Elevated hepatic transaminase OMIM:189800
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hepatic failure OMIM:602579
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Pro... OMIM:224120
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Pallor OMIM:611590
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Thrombocytopenia, Hepatomegaly, Ascite... ORPHA:2123
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, ... ORPHA:300298
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly, Pallor OMIM:246400
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Neutropenia, Anemia, Splenomegaly OMIM:602079
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Rosaï-Dorfman Disease
Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Aniso... OMIM:616860
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased m... ORPHA:98870
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:98375
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Erythema, Decreased liver function, Edema ORPHA:79278
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Chylothorax, Edema,... OMIM:265300
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly OMIM:613313
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Pallor ORPHA:49827
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Lymphedema, Lymphangiectasis, Edema, Predominantly lower limb lymphedema ORPHA:182
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Petechiae, Edema, Splenomegaly, Mediastin... ORPHA:158029
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Petechiae, Giant platelet... OMIM:187800
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels ORPHA:662
Retinitis Pigmentosa 42
Pallor OMIM:612943
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Normocytic anemia, T... ORPHA:98849
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Vasculitis, Ly... ORPHA:37748
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Anemia ORPHA:655
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Erythema, Edema, Hepatic failure OMIM:177000
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Erythema, Hepatomegaly, Edema, Skin ulcer, Splenomegaly, Lymphade... ORPHA:2584
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia, Increased circulating IgG level, Ascites, Tr... ORPHA:284227
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Waldenström Macroglobulinemia
Purpura, Abnormality of neutrophils, Pleural effusion, Pedal edema, Normocytic anemia, Hepatomega... ORPHA:33226
Refractory Anemia With Excess Blasts
Anemic pallor, Leukocytosis, Pedal edema, Thrombocytopenia, Acute myeloid leukemia, Anemia of ina... ORPHA:86839
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Purpura, Lymphopenia, Neutropenia, Anemia OMIM:604250
Retinitis Pigmentosa 60
Pallor OMIM:613983
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepato... OMIM:612840
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Retinitis Pigmentosa 81
Pallor OMIM:617871
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Generalized edema OMIM:207731
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly, Pallor ORPHA:90033
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Anemia, Pulmona... OMIM:617300
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration, Anemia ORPHA:28
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
American Trypanosomiasis
Hepatomegaly, Edema, Splenomegaly, Periorbital edema, Pallor, Lymphadenopathy ORPHA:3386
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Ascites, Anemia, Lymphad... ORPHA:858
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Mastocytosis, Cutaneous
Erythema, Edema, Cutaneous mastocytosis OMIM:154800
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Pallo... ORPHA:90045
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Hypochromic anemia, Abnormality of the liver OMIM:209300
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:616959
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Optic Atrophy 9
Pallor OMIM:616289
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Sepsis In Premature Infants
Purpura, Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver fun... ORPHA:90051
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Majeed Syndrome
Joint swelling, Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decrea... OMIM:609628
Parkes Weber Syndrome
Arteriovenous fistula, Cerebral arteriovenous malformation, Abnormal lymphatic vessel morphology,... ORPHA:90307
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Pancreatic lymphangiectasis, Lymphedema, Hepatomegaly, Thyroid lymphangiectasia, ... OMIM:235255
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Peripheral Cone Dystrophy
Pallor OMIM:609021
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Splenomegaly, Ascites, Hepatic failure, Anemia ORPHA:75233
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Abnormality of the lymph nodes, Abnormality of the pancreas, Anemi... ORPHA:54251
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Ascites, Anemia, Splenomegaly ORPHA:1046
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Cerebral artery stenosis, Pancytopenia, Acute myeloid leukemia, Hypoplastic ane... ORPHA:447
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia, Splenomegaly, Pancreatitis ORPHA:79312
Thrombocytopenia 5
Thrombocytopenia, Petechiae, Neutropenia, Anemia OMIM:616216
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Immunodeficiency 46
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Dehydration, Anemia, Leukopenia, Pancreatitis, Macrocytic anemia ORPHA:27
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Ma... OMIM:615438
Cinca Syndrome
Leukocytosis, Lymphedema, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Congenital Disorder Of Glycosylation, Type Ih
Oligohydramnios, Patent ductus arteriosus, Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased... OMIM:608104
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Facial edema, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Chylothorax, Edema, Ascites, Nonimmun... OMIM:616843
Focal Segmental Glomerulosclerosis 1
Edema, Anemia OMIM:603278
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 2
Increased red blood cell mass, Varicose veins, Increased hematocrit, Increased hemoglobin OMIM:263400
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Edema, Anemia, Splen... ORPHA:39041
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Oligohydramnios, Coarctation of aorta, Patent ductus arteriosu... OMIM:606003
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Acute pancreatitis, Hepatomegaly, Ja... ORPHA:20
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Meige Disease
Edema of the dorsum of hands, Lymphedema, Pleural effusion, Lymph node hypoplasia, Peripheral ede... ORPHA:90186
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Joint swelling, Hepatic steatosis, Acu... ORPHA:905
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous... ORPHA:229717
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Pancytopenia, Aplastic anemia, Anemia, Mediastinal lymphadenopathy, ... OMIM:614742
Dohle Bodies And Leukemia
Lymphedema, Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema, Anemia ORPHA:329971
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Optic Atrophy 1
Pallor OMIM:165500
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hemophagocytosis, Elevated hepatic transaminase, Purpura, Decreased circulating antib... ORPHA:540
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Erythema, Hepatomegaly, Edema, Splenomegaly, Lymphadenopathy OMIM:619183
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Lymphatic Filariasis
Lymphadenitis, Lymphedema, Predominantly lower limb lymphedema, Lymphangiectasis, Abnormality of ... ORPHA:2035
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Leukocytosis, Abnormal macrophage morphology, Pericardial effusi... ORPHA:292
Sézary Syndrome
Abnormal lymphocyte morphology, Hepatomegaly, Edema, Splenomegaly, Abnormal immunoglobulin level,... ORPHA:3162
Hereditary Elliptocytosis
Hydrops fetalis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal eryt... ORPHA:288
Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Leukocytosis, Increased circulatin... ORPHA:3392
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Pallor ORPHA:54028
Fumarase Deficiency
Polycythemia, Pallor, Hepatic failure, Cholestasis OMIM:606812
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Persistent left superior vena cava,... OMIM:619151
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Edema, Splenomegaly OMIM:105200
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Mediastinal lymphadenopathy, Neopla... ORPHA:83469
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Anemia ORPHA:3405
Thrombocytopenia, Anemia ORPHA:673
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Klippel-Trénaunay Syndrome
Hydrops fetalis, Microcytic anemia, Patent ductus arteriosus, Hepatomegaly, Edema, Peripheral art... ORPHA:90308
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Pericardial effusion, Pedal edema, Biliary tract... ORPHA:77259
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Retinitis Pigmentosa 70
Pallor OMIM:615922
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hepatomegaly, Dehydration, Edema, Pallor ORPHA:134
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop... OMIM:617780
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Thymic Carcinoma
Palpebral edema, Abnormal vena cava morphology, Neoplasm of the thymus, Edema, Mediastinal lympha... ORPHA:99868
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellulari... ORPHA:88
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, ... OMIM:259720
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Petechiae, Splenomegaly OMIM:314050
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Vascular dilatation, Pallor OMIM:616307
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Focal pancreatic islet hyperplasia, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276575
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Cinca Syndrome
Purpura, Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly,... ORPHA:1451
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Vasculitis in the skin, Generalized lymphadenopathy, Chronic hepatitis, Anemia, N... ORPHA:3260
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice... OMIM:170100
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia ORPHA:289916
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276556
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Pancytopenia, Thrombocytopenia, Hep... ORPHA:398124
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Congenital Rubella Syndrome
Patent ductus arteriosus, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Dermatitis Herpetiformis
Erythema, Skin vesicle, Edema, Microcytic anemia ORPHA:1656
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Panhypo... ORPHA:79124
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Petechiae, Splenomegaly, Lym... ORPHA:79477
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly, Reduced ... OMIM:616050
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Hepatitis, Recurrent cutaneous abscess formation, Agammaglobulinem... ORPHA:47
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Increased circulating antibody level, Lymphopenia, Thrombocytopeni... OMIM:617591
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276580
Wells Syndrome
Skin vesicle, Edema, Eosinophilia ORPHA:901
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Lymphedema, Pleural effusion, Pericardial effusion, Thyroid lymphan... OMIM:235510
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Pulmonary lymphangiectasia OMIM:247410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Patent ductus arteriosus, Neutropenia, Hypoplasia... OMIM:612541
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Jaundice, Spleno... OMIM:603553
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Nonimmune hyd... OMIM:266200
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Petechiae, Anemia of inadequate production, Acanthocytosis, Poikiloc... OMIM:300367
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Bazex Syndrome
Scaling skin, Edema, Anemia ORPHA:166113
Ollier Disease
Lymphangioma, Skin ulcer, Anemia ORPHA:296
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Retinitis Pigmentosa 73
Pallor OMIM:616544
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia, Periorbital ed... ORPHA:514
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Edema, Ascites, Hepatic failure, Portal hypertension,... OMIM:232500
Tufted Angioma
Thrombocytopenia, Petechiae, Anemia, Purpura ORPHA:1063
Anti-Glomerular Basement Membrane Disease
Vasculitis, Anemia, Purpura ORPHA:375
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Lym... ORPHA:2442
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Neutropenia, Anemia OMIM:617056
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Hepatomegaly, Edema... OMIM:226300
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Decreased liver function, Nonimmune hydrops fetalis, Anemia OMIM:618835
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Decreased liver function, Nonimmune hydrops fetalis, Anemia OMIM:618839
Senior-Loken Syndrome 1
Anemia OMIM:266900
Hyperlysinemia, Type I
Anemia OMIM:238700
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Pancreatic lymphangiectasis, Hepatomegaly, Redundant neck skin, Pulmonary lymphan... ORPHA:1655
Fanconi Anemia, Complementation Group E
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia, Pallor OMIM:609053
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Methylmalonic Aciduria, Cblb Type
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia OMIM:251110
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Pyoderma gangrenosum, Anemia, Erythema OMIM:608068
Fanconi Anemia, Complementation Group A
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
Q Fever
Elevated hepatic transaminase, Purpura, Increased circulating antibody level, Cholecystitis, Abno... ORPHA:781
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Mevalonic Aciduria
Fluctuating hepatomegaly, Elevated hepatic transaminase, Leukocytosis, Thrombocytopenia, Edema, A... OMIM:610377
Fanconi Anemia, Complementation Group C
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, ... OMIM:227645
Fanconi Anemia, Complementation Group D2
Anemic pallor, Patent ductus arteriosus, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocyt... OMIM:227646
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me... OMIM:617948
Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Increased hepatic glycogen content, Pancreat... ORPHA:263455
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Gen... OMIM:267700
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Senior-Loken Syndrome 4
Anemia OMIM:606996
Methylmalonic Aciduria, Cbla Type
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia OMIM:251100
Tangier Disease
Orange discolored tonsils, Accelerated atherosclerosis, Coronary artery stenosis, Chronic noninfe... ORPHA:31150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Acute Promyelocytic Leukemia
Ecchymosis, Purpura, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Petechiae, Anemia... ORPHA:520
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Stormorken Syndrome
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia OMIM:185070
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Good Syndrome
Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediast... ORPHA:169105
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Livedoid Vasculopathy
Leukocytosis, Abnormal capillary morphology, Polycythemia, Pedal edema, Pancytopenia, Macular pur... ORPHA:542643
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver functi... OMIM:615486
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Increased circulating antibody level, Hep... ORPHA:284
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit, Elevated hepatic transaminase, Extrahepatic cholest... ORPHA:100076
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal lymphadenopathy, Folli... OMIM:615934
Propionic Acidemia
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia, Pancreatitis OMIM:606054
Hennekam Syndrome
Hydrops fetalis, Lymphedema, Decreased circulating antibody level, Lymphopenia, Pericardial effus... ORPHA:2136
Hereditary Orotic Aciduria
Impaired T cell function, Patent ductus arteriosus, Anemia, Splenomegaly ORPHA:30
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Anemia OMIM:618838
Eosinophilic Gastroenteritis
Leukocytosis, Edema, Ascites, Anemia, Eosinophilia ORPHA:2070
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Renal artery aneurysm, Elevated hepatic transaminase, Purpura, Leukocytosis, Decr... OMIM:615688
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Pleural empyema, Thrombocytopenia, Edema, Pancreatitis, Generaliz... ORPHA:544482
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Pericardial effusion, Anemia, Petechiae ORPHA:231111
Rare Circulatory System Disease
Arterial tortuosity, Abnormal vascular morphology, Arterial calcification, Vascular calcification... ORPHA:98028
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Pallor, Facial erythema ORPHA:439218
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Ne... OMIM:260400
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Purpura, Thrombocytopenia, Hepatomegaly, Petechiae, Splenomegaly, Ascites, Hepati... OMIM:608013
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Castleman Disease
Anasarca, Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia, Jaundice, Anemia... ORPHA:160
Oslam Syndrome
Anemia OMIM:165660
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Anasarca, Elevated hepatic transaminase, ... ORPHA:88673
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Pulmonary artery stenosis, Anemia, Pallor, Lymphadenopathy ORPHA:667
Normochromic anemia, Pallor ORPHA:95512
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Venous malformation, Varicose veins OMIM:613089
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia OMIM:618886
Rh-Null, Regulator Type
Jaundice, Hemolytic anemia, Stomatocytosis OMIM:268150
Relapsing Fever
Elevated hepatic transaminase, Leukocytosis, Thrombocytopenia, Jaundice, Anemia, Leukopenia, Neut... ORPHA:91547
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Lymphedema, Pulmonary lymphangiectasia, Palpebral edema OMIM:137940
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Elevated hepatic transaminase, Leukocytosis, Pleural effusion, Pleural empyema, Ane... ORPHA:67
Von Hippel-Lindau Disease
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Macular edema, Pallor, Pancreatic islet... ORPHA:892
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Elevated ... ORPHA:167
Kikuchi-Fujimoto Disease
Lymphocytosis, Elevated hepatic transaminase, Palpebral edema, Pleural effusion, Vasculitis in th... ORPHA:50918
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Cholestasis,... ORPHA:264580
Normochromic anemia, Pallor ORPHA:95513
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hepatic steatosis, Pallor, Elevated hepatic transaminase ORPHA:348
Gaucher Disease Type 3
Hydrops fetalis, Increased circulating antibody level, Pericardial effusion, Pancytopenia, Thromb... ORPHA:77261
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Retinitis Pigmentosa 51
Pallor OMIM:613464
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia ORPHA:2268
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Cholestasis, Hepatitis, Cholestatic liver disease, Anemia, Portal ... ORPHA:440713
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Sheehan Syndrome
Normochromic anemia, Pallor, Dry skin ORPHA:91355
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:614520
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Dravet Syndrome
Pallor ORPHA:33069
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Anemia, Excessive wrinkled skin, Abnormal leukocyte morphology, Bone marrow hyp... ORPHA:3322
Mirage Syndrome
Lymphopenia, Patent ductus arteriosus, Thrombocytopenia, Petechiae, Anemia, Leukopenia, Hypoplast... OMIM:617053
Diamond-Blackfan Anemia 10
Reticulocytopenia, Patent ductus arteriosus, Anemia, Macrocytic anemia OMIM:613309
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Chronic neutropenia, Neutropeni... ORPHA:811
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Lymphopenia, Agammaglobulinemia, Anemia ORPHA:935
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Fatal liver failure in infancy, Microvesicular hepatic steatosis, Vacuola... ORPHA:275761
Costello Syndrome
Polyhydramnios, Lymphangiectasis OMIM:218040
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Anemia, Acanthocytosis OMIM:616457
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Arteriosclerosis, Severe Juvenile
Arteriosclerosis, Calcification of the aorta, Central retinal vessel vascular tortuosity, Anemia OMIM:208060
Sweet Syndrome
Small vessel vasculitis, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Pyoder... ORPHA:3243
Fanconi Anemia, Complementation Group F
Polyhydramnios, Patent ductus arteriosus, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypoc... OMIM:603467
Multiple Myeloma
Decreased circulating antibody level, Pleural effusion, Increased circulating IgG level, Splenome... ORPHA:29073
Hydatidiform Mole
Anemia ORPHA:99927
Lysinuric Protein Intolerance
Hemophagocytosis, Cutis laxa, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, P... OMIM:222700
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total ... OMIM:612301
Incontinentia Pigmenti
Leukocytosis, Pallor, Eosinophilia, Erythema OMIM:308300
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Pearson Syndrome
Hydrops fetalis, Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Reticulocytosi... ORPHA:699
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Elevated hepatic transaminase, Oligohydramnios, Hepatic steatosis, Cholestasis, Pancyt... OMIM:613658
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
Anemia, Congenital Dyserythropoietic, Type Iii
Jaundice, Congenital hypoplastic anemia, Macrocytic anemia, Anemia of inadequate production OMIM:105600
Copper Deficiency, Familial Benign
Anemia OMIM:121270
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Lung abscess, Thrombocytosis, Increased circulating IgM level, Arteritis, Purpura, Leukocytosis, ... ORPHA:1304
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia OMIM:259730
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Anemia, Splenomegaly OMIM:239200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Interrupted aortic arch, Pleural effusion, P... OMIM:265380
Carney Triad
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy ORPHA:139411
Wiskott-Aldrich Syndrome
Vasculitis, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Purpura, Lymphopenia, Neutrope... ORPHA:906
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Gastrointestinal Stromal Tumor
Abnormality of the liver, Anemia ORPHA:44890
Blau Syndrome
Joint swelling, Large vessel vasculitis, Erythema, Abnormality of the liver, Xerostomia, Skin ulc... ORPHA:90340
Cogan Syndrome
Thrombocytosis, Leukocytosis, Large vessel vasculitis, Anemia, Vasculitis ORPHA:1467
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hepatic arteriovenous malformation, Anemia, Aortic dissectio... OMIM:175050
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Anemia, Vulval varicose vein, Varicose veins, Renal artery stenosis ORPHA:71273
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor, Pulmonary edema ORPHA:137675
Nephronophthisis 4
Anemia OMIM:606966
Lymphedema, Ascites, Chylothorax, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sy... ORPHA:538
Childhood Absence Epilepsy
Pallor ORPHA:64280
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver, Cervical lymphadenopathy ORPHA:653
Alternating Hemiplegia Of Childhood
Dehydration, Pallor ORPHA:2131
Esophageal Atresia
Polyhydramnios, Tetralogy of Fallot, Pallor, Coarctation of aorta ORPHA:1199
Pallor ORPHA:2965
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Patent ductus arteriosus, Hypoplastic aortic... ORPHA:99125
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cirrhosis, Gastrointestinal arteriovenous malformation, Cerebral arteriovenous malformation, Hepa... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cirrhosis, Gastrointestinal arteriovenous malformation, Cerebral arteriovenous malformation, Hepa... OMIM:187300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Tuberous Sclerosis 1
Pulmonary lymphangiomyomatosis OMIM:191100
Tuberous Sclerosis 2
Pulmonary lymphangiomyomatosis OMIM:613254
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Hepatic cysts, Aortic aneurysm ORPHA:805


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ccbe1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ccbe1.

No publications found that use IMPC mice or data for Ccbe1.

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MGI Allele Allele Type Produced
Ccbe1em1(IMPC)Mbp Exon Deletion Mice
Ccbe1tm46161(L1L2_Bact_P) Targeting vectors

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